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Exome Sequencing

Exome sequencing selectively targets regions of the genome encoding for protein. Exome sequencing is faster and cheaper than whole genome sequencing and can characterise novel genes associated with Mendelian diseases, cancer and population studies.

Platform Illumina MiSeq, Ion Proton, Ion PGM™
Deliverables
  • Sample QC report
  • Analytical report (including sample and library preparation – mate pair, pair end or single end)
  • Raw FASTQ files
Research Objectives This application allows for identification of functional variation, responsible for both Mendelian and common diseases, in a cost efficient manner while maintaining high coverage in sequence depth.
Related Services
  • Eukaryotic Genome Sequencing
  • Targeted Resequencing
  • Axiom Plate Array

Overview

Exome sequencing selectively targets regions of the genome encoding for protein. Exome sequencing is faster and cheaper than whole genome sequencing and can characterise novel genes associated with Medelian diseases, cancer and population studies.

Service Details

The CPGR will accept purified DNA samples that conform to the minimum requirements. DNA samples will undergo QC using the Quant-iT™ PicoGreen® dsDNA assay kit. Sample enrichment as well as library preparation and construction will be performed according to project specific requirements followed by high throughput sequencing. The raw FASTQ files are used as an input for standard bioinformatics analysis.

Service Deliverables

The client will in the first instance receive a sample QC report detailing whether the integrity of the sample meets the requirements for the application. Following sequencing the client will receive an analytical report detailing the parameters and the results of the sequencing run including the raw FASTQ files. If required, bioinformatics support is available.

Starting Material

  • DNA Quantity:  ≥ 6 µg
  • DNA Concentration: 60 ng/µl